A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17090212



Internal ID21491691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49498386..49498455hg38UCSC Ensembl
chr13:50072522..50072591hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5587110
Supporting Variants
SamplesNA19238
Known GenesPHF11
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17090212
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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